Phillipa J. Lamont

Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

<scp>Non‐GAA</scp> Repeat Expansions in <scp><i>FGF14</i></scp> Are Likely Not Pathogenic—Reply to: “<i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

Expanding the phenotype of GMPPB mutations

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement